Linked Data
ClinVar Variation Id:
2059212
ClinVar RCV Id:
RCV002933616
dbSNP Id:
rs139864999
ExAC:
16:28997059 T / C
gnomAD v2:
16-28997059-T-C
gnomAD v3:
16-28985738-T-C
gnomAD v4:
16-28985738-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28985738T>C , CM000678.2:g.28985738T>C | GRCh38 |
| NC_000016.9:g.28997059T>C , CM000678.1:g.28997059T>C | GRCh37 |
| NC_000016.8:g.28904560T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697038.1:n.133T>C | ||
| ENST00000354453.7:n.478T>C | ||
| ENST00000395456.7:c.126T>C MANE Select | ENSP00000378841.3:p.Asp42= | |
| ENST00000360872.9:c.126T>C | ENSP00000354119.5:p.Asp42= | |
| ENST00000395456.6:c.126T>C | ENSP00000378841.2:p.Asp42= | |
| ENST00000395461.7:c.234T>C | ENSP00000378845.3:p.Asp78= | |
| ENST00000454369.6:c.126T>C | ENSP00000398793.2:p.Asp42= | |
| ENST00000562472.5:n.480T>C | ||
| ENST00000562701.5:c.126T>C | ENSP00000454793.1:p.Asp42= | |
| ENST00000563964.5:n.478T>C | ||
| ENST00000564277.5:c.126T>C | ENSP00000457036.1:p.Asp42= | |
| ENST00000566177.5:c.126T>C | ENSP00000456761.1:p.Asp42= | |
| ENST00000566270.5:n.495T>C | ||
| ENST00000630764.2:c.126T>C | ENSP00000488120.1:p.Asp42= | |
| NM_001014987.1:c.126T>C | NP_001014987.1:p.Asp42= | |
| NM_001014988.1:c.126T>C | NP_001014988.1:p.Asp42= | |
| NM_001014989.1:c.234T>C | NP_001014989.2:p.Asp78= | |
| NM_014387.3:c.126T>C | NP_055202.1:p.Asp42= | |
| NM_001014987.2:c.126T>C MANE Select | NP_001014987.1:p.Asp42= | |
| NM_001014988.2:c.126T>C | NP_001014988.1:p.Asp42= | |
| NM_001014989.2:c.234T>C | NP_001014989.2:p.Asp78= | |
| NM_014387.4:c.126T>C | NP_055202.1:p.Asp42= |